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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

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Contributors: Andrea Wasilewski MD, Richard L. Barbano MD, PhD
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Synopsis

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome : Nystagmus, Dysphagia, Chronic cough, Postural hypotension
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare disease defined by loss of the visuo-vestibulo-ocular reflex, peripheral sensory axonal neuropathy, and late-onset cerebellar ataxia. Presentation is variable and patients may also present with dysautonomia, neuropathic pain, and chronic cough. CANVAS syndrome occurs due to a repeat expansion in the RFC1 gene and can be familial (autosomal recessive inheritance) or sporadic. Sensory deficits occur due to dorsal root ganglia loss and neuronopathy. Ataxia occurs due to loss of Purkinje cells in the cerebellum.

Patients usually present in the fifth or sixth decade of life, although the onset of symptoms is variable and may take over a decade to develop the classic triad of bilateral vestibulopathy, cerebellar ataxia, and sensory neuropathy. Most patients will have a slowly progressive course. Hearing is typically preserved.

Codes

ICD10CM:
G11.2 – Late-onset cerebellar ataxia
G11.9 – Hereditary ataxia, unspecified

SNOMEDCT:
193165008 – Neuropathy in association with hereditary ataxia
95814001 – Peripheral vestibular disease

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Last Reviewed:10/05/2021
Last Updated:01/12/2022
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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
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